STAR steroidogenic acute regulatory protein
Gene ID: 6770, updated on 2-May-2024Gene type: protein coding
Also known as: STARD1
- See all available tests in GTR for this gene
- Go to complete Gene record for STAR
- Go to Variation Viewer for STAR variants
Summary
The protein encoded by this gene plays a key role in the acute regulation of steroid hormone synthesis by enhancing the conversion of cholesterol into pregnenolone. This protein permits the cleavage of cholesterol into pregnenolone by mediating the transport of cholesterol from the outer mitochondrial membrane to the inner mitochondrial membrane. Mutations in this gene are a cause of congenital lipoid adrenal hyperplasia (CLAH), also called lipoid CAH. A pseudogene of this gene is located on chromosome 13. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Congenital lipoid adrenal hyperplasia due to STAR deficency | See labs |
| Genome-wide association study of orthostatic hypotension and supine-standing blood pressure changes in two korean populations. GeneReviews: Not available |
Genomic context
- Location:
- 8p11.23
- Sequence:
- Chromosome: 8; NC_000008.11 (38142700..38150952, complement)
- Total number of exons:
- 7
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for STAR variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- STAR database
- Variation ViewerRelated Variants
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